C43R (p.Cys43Arg) variant of WAS (P42768)
C43R (p.Cys43Arg) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C43R (p.Cys43Arg) variant details
- p.Cys43Arg
- 1000Genomes rs782057219
- ExAC rs782057219
- TOPMed rs782057219
- gnomAD rs782057219
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.87
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available